Research output per year
Research output per year
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Dive into the research topics where Kenjiro Kosaki is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
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A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R
Nakajima, K., Suzuki, H., Yamamoto, M., Yamamoto, T., Kawai, T., Nakabayashi, K., Hata, K., Kosaki, K., Nakajima, H., Sano, S. & Kubo, A., 2022, (Accepted/In press) In: Journal of Dermatology.Research output: Contribution to journal › Article › peer-review
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A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis
Awazu, M., Yamada, M., Asada, N., Hashiguchi, A., Kosaki, K. & Matsumura, K., 2022 Feb 1, In: CEN case reports. 11, 1, p. 116-119 4 p.Research output: Contribution to journal › Article › peer-review
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An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions
Hayakawa, M., Matsubara, T., Mochizuki, Y., Takeuchi, C., Minamitani, M., Imai, M., Kosaki, K., Arai, T. & Murayama, S., 2022 Dec, In: BMC Neurology. 22, 1, 2.Research output: Contribution to journal › Article › peer-review
Open Access -
A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders
Yamada, M., Suzuki, H., Shima, T., Uehara, T. & Kosaki, K., 2022 Feb, In: American Journal of Medical Genetics, Part A. 188, 2, p. 613-617 5 p.Research output: Contribution to journal › Article › peer-review
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BCS1L mutations produce Fanconi syndrome with developmental disability
Kanako, K. I., Sakakibara, N., Murayama, K., Nagatani, K., Murata, S., Otake, A., Koga, Y., Suzuki, H., Uehara, T., Kosaki, K., Yoshiura, K. I., Mishima, H., Ichimiya, Y., Mushimoto, Y., Horinouchi, T., Nagano, C., Yamamura, T., Iijima, K. & Nozu, K., 2022 Mar, In: Journal of Human Genetics. 67, 3, p. 143-148 6 p.Research output: Contribution to journal › Article › peer-review